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Cone-rod dystrophy (CRD, also known as crd-PRA) affects the photoreceptor cells in the eye involved in both night and day vision.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informations générales
Cone-rod dystrophy (CRD, also known as crd-PRA) affects the photoreceptor cells in the eye involved in both night and day vision. The cells of the retina involved in low light vision, known as rods, are affected first, resulting in night blindness. Subsequently, the bright light photoreceptors known as cones, which are important for colour vision, are also affected, resulting in daytime visual deficit.
This variant of crd, found in the Dachshund, is caused by a recessive mutation to the gene NPHP4.
Caractéristiques cliniques
Affected dogs have progressively degenerating retinas, which grow thinner and more “ragged” within the first few months after birth. They will display a diversity of severe vision impairment in both well-lit and dimly-lit conditions, which can progress to more severe blindness over the years.
Additional Information
Références
Pubmed ID: 18687878
Omia ID: 1455